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NM_005249

NM_001160112
NM_008241

RefSeq (protein)

NP_005240

NP_001153584
NP_032267

Location (UCSC) Chr 14: 28.76 – 28.77 Mb Chr 12: 49.38 – 49.39 Mb PubMed search [3] [4] Wikidata
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Forkhead box protein G1 is a protein that in humans is encoded by the FOXG1 gene.[5][6][7]

Function

This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the development of the brain and telencephalon. It likely causes problems if it is mutated in children. Mutations cause high levels of mortality.[7]

Cajal Retzius Cell development is regulated by Foxg1

FOXG1 syndrome

FOXG1 syndrome is characterized by microcephaly and brain malformations. It affects most aspects of development and can cause seizures. FOXG1 syndrome is classified as an Autism Spectrum Disorder and was previously considered a variant of Rett Syndrome.[8][9]

Interactions

FOXG1 has been shown to interact with JARID1B.[10]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000176165 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020950 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Murphy DB, Wiese S, Burfeind P, Schmundt D, Mattei MG, Schulz-Schaeffer W, Thies U (Nov 1994). "Human brain factor 1, a new member of the fork head gene family". Genomics. 21 (3): 551–7. doi:10.1006/geno.1994.1313. PMID 7959731. 
  6. ^ Bredenkamp N, Seoighe C, Illing N (Feb 2007). "Comparative evolutionary analysis of the FoxG1 transcription factor from diverse vertebrates identifies conserved recognition sites for microRNA regulation". Dev Genes Evol. 217 (3): 227–33. doi:10.1007/s00427-006-0128-x. PMID 17260156. 
  7. ^ a b "Entrez Gene: FOXG1B forkhead box G1B". 
  8. ^ http://ghr.nlm.nih.gov/condition/foxg1-syndrome
  9. ^ http://dnatesting.uchicago.edu/blog/foxg1-syndrome-more-congenital-variant-rett-syndrome
  10. ^ Tan K, Shaw AL, Madsen B, Jensen K, Taylor-Papadimitriou J, Freemont PS (Jun 2003). "Human PLU-1 Has transcriptional repression properties and interacts with the developmental transcription factors BF-1 and PAX9". J. Biol. Chem. 278 (23): 20507–13. doi:10.1074/jbc.M301994200. PMID 12657635. 

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.